When is genome sequencing advisable?

Human geneticists conduct clinical reference study for the diagnosis of genetic diseases

10-Jun-2024 - Scientists from the Broad Institute of MIT and Harvard, Harvard Medical School, and the University of Leipzig Medical Center (UKL) have shown in two independent patient cohorts when a genome sequencing is beneficial in the diagnosis of genetic diseases. The jointly published study provides ...

Researchers fully sequence the Y chromosome for the first time

30-Aug-2023 - What was once the final frontier of the human genome — the Y chromosome — has just been mapped out in its entirety. Led by the National Human Genome Research Institute (NHGRI), a team of researchers at the National Institute of Standards and Technology (NIST) and many other organizations used ...

New tool integrates microbiome and host genetic sequencing analysis

A new software tool makes it easier to study relationships between a host, its microbiome and pathogens like HIV or SARS-CoV-2

10-May-2022 - Researchers at Texas Biomedical Research Institute and Tulane University have developed a new software tool that makes it easier, faster and more cost effective to analyze genetic information about a host and its microbiome at the same time. The software, called “meta-transcriptome detector” ...

Researchers generate the first complete, gapless sequence of a human genome

“The complete blueprint is going to revolutionize the way we think about human genomic variation, disease and evolution”

04-Apr-2022 - Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.According to researchers, having a complete, gap-free sequence of the roughly 3 billion bases (or “letters”) in our DNA is ...

Time needed to sequence key molecules could be reduced from years to minutes

Research demonstrates potential for rapid, accurate glycan sequencing

10-Mar-2021 - Using a nanopore, researchers have demonstrated the potential to reduce the time required for sequencing a glycosaminoglycan -- a class of long chain-linked sugar molecules as important to our biology as DNA -- from years to minutes. As published in the Proceedings of the National Academies of ...

Structure of virus that infects bacteria in hot springs is revealed

06-Feb-2019 - Scientists have revealed the structure of a virus infecting bacteria that thrive in 160-degree hot springs in places like Yellowstone National Park in Wyoming. The discovery could lead to better targeted delivery of drugs into cells and new DNA sequencing technology, according to a study by ...

Amgen Invests $66 Million In Oxford Nanopore Technologies

24-Oct-2018 - Amgen and Oxford Nanopore Technologies Ltd. announced Amgen's equity investment of £50 million ($66 million) in Oxford Nanopore, a privately-owned, UK-based company advancing a new generation of portable, real-time genetic sequencing technology. Oxford Nanopore has developed and brought to market ...

Genetic variants reveal new targets for chronic kidney disease treatment

How specific cell types can lead to development of disease

04-Oct-2018 - The kidney does more than double or even triple duty compared to other organs - it extracts waste, balances body fluids, forms urine, regulates blood pressure, and secretes hormones. Given this complexity, when things go wrong, havoc can ensue, causing a suite of symptoms called chronic kidney ...

New online tool gives 3-D view of human metabolic processes

28-Feb-2018 - An international team of researchers has developed a computational resource that provides a 3D view of genes, proteins and metabolites involved in human metabolism. Researchers used the tool to map disease-related mutations on proteins and also probed how genes and proteins change in response to ...

New device for low-cost single-cell analysis identifies fibroblast subtypes in RA patients

26-Feb-2018 - Single-cell analysis holds enormous potential to study how individual cells influence disease and respond to treatment, but the lack of cost-effective and user-friendly instrumentation remains challenging. As described in a study researchers at the New York Genome Center (NYGC) and New York ...